Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Thrombophilie durch Heparin-Kofaktor 2-Mangel

Die Thrombophilie durch Heparin-Kofaktor 2-Mangel ist eine autosomal dominante Erkrankung, die durch Mutationen im SERPIND1-Gen ausgelöst wird.

Gliederung

Venöse thromboembolische Erkrankungen
Autosomal dominanter Protein C-Mangel
Autosomal dominanter Protein S-Mangel
Autosomal rezessiver Protein C-Mangel
Autosomal rezessiver Protein S-Mangel
F2
F5
Faktor XII-Mangel
HABP2
Hyperhomozysteinämie bedingte Thrombose
Hypoplasminogenemie
MTHFR
PAI-Transkriptionsmodulator
Protein Z-Mangel
SERPINC1
THBD
Thrombophilie durch Heparin-Kofaktor 2-Mangel
SERPIND1
VKORC1

Referenzen:

1.

Herzog R et al. (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.

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2.

Andersson TR et al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families.

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3.

Blinder MA et al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.

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4.

Kondo S et al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).

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5.

Kanagawa Y et al. (2001) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima.

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6.

Matsuo T et al. (1992) Hereditary heparin cofactor II deficiency and coronary artery disease.

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7.

Tran TH et al. (1985) Association of hereditary heparin co-factor II deficiency with thrombosis.

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8.

Sie P et al. (1985) Constitutional heparin co-factor II deficiency associated with recurrent thrombosis.

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9.

Villa P et al. (1999) Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis.

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10.

OMIM.ORG article

Omim 612356 external link
Update: 14. August 2020
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